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Quiénes Fueron Prader, Willi Y Labhart? Miguel Zafra Anta1, Amelia Muñoz Calonge2, Juan Medino Muñoz3 1

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Quiénes Fueron Prader, Willi Y Labhart? Miguel Zafra Anta1, Amelia Muñoz Calonge2, Juan Medino Muñoz3 1 138 canarias pediátrica · vol. 38, nº3 Humanidades en pediatría Epónimos en pediatría (12) ¿Quiénes fueron Prader, Willi y Labhart? Miguel Zafra Anta1, Amelia Muñoz Calonge2, Juan Medino Muñoz3 1. Pediatra. Hospital Universitario de Fuenla- brada. Grupo de Historia de la Pediatria de la AEP, Madrid 2. Residente de Pediatría. Hospital Infantil Uni- versitario La Paz, Madrid 3. Licenciado en Geografía e Historia. Biblio- teca. Hospital Universitario de Fuenlabrada, Madrid Introducción. soma 15, (15q.11.2-q13) con ausencia de ex- presión de los genes paternos1. La mayoría de Definición del síndrome los casos aparecen de forma esporádica. Se la puede incluir entre las denominadas en- El síndrome de Prader-Willi (SPW) o de Prad- fermedades raras, pues la incidencia es 1 por er-Labhart-Willi (variante en desuso) es una cada 10.000 a 30.000 recién nacidos. Se pre- enfermedad compleja del neurodesarrollo, senta en todos los grupos étnicos. El diagnós- congénita, multisistémica, de expresión clíni- tico actualmente requiere la valoración de la ca variable, descrita por primera vez en 1956 combinación de clínica y técnicas de genética por los pediatras suizos Andrea Prader (1919- molecular. 2001) y Heinrich Willi (1900-1971) y por el in- ternista Alexis Labhart (1916-1994) (figura 1). El diccionario de términos de la Real Aca- demia Nacional de Medicina menciona que la Sus características clínicas clave son hipo- pronunciación aproximada es Práder o Prádar tonía muscular y dificultad de alimentación Vili, por su origen en idioma alemán pero, en- en los primeros uno a dos años de la vida, tre hispanohablantes, se oye también como hipogenitalismo y posteriormente hiperfagia, Práder-güili. obesidad grave, y sus complicaciones si no se trata: talla baja, facies particular y retraso Descubrimiento del síndrome de mental. Se considera que el SPW sin tratar es Prader-Willi el trastorno genético más común de obesidad mórbida en pediatría. La causa es compleja, El SPW se presentó por A. Prader, A. Labhart, siendo el resultado de la alteración en una H. Willi y G. Fanconi en junio de 1956 en el pequeña región del brazo largo del cromo- 8º Congreso Internacional de Pediatría, de Figura 1. De izquierda a derecha: Andrea Prader, Alexis Labhar y Heinrich Willi. canarias pediátrica septiembre - diciembre 2014 139 Humanidades en pediatría Copenhague2. También se presentó ese año un fenotipo peculiar: microcefalia, hipertelor- en la Sociedad Suiza de Pediatría, habiendo ismo, epicanto, ojos en forma de almendra, participado en el trabajo Andrew Ziegler. boca de pez, manos y pies pequeños, der- matoglifos especiales. Hay trastornos deriva- La primera publicación en revista médica, en dos de la obesidad mórbida como apnea del el Semanario Médico Suizo, data de 19563: sueño, diabetes mellitus 2 y complicaciones Prader A, Labhart A, Willi H. Ein syndrome óseas. Son frecuentes las alteraciones den- von Adipositas, Kleinwuchs, Kryptorchismus tarias, de la pigmentación de la piel y otros. und Oligophrenie nach myatonieartigem Zu- Muchas de las manifestaciones clínicas se de- stand im neugeborenenalter. Schweiz Med ben a insuficiencia hipotalámica: hiperfagia, Wochenschr. 1956; 44: 1260–1261. Se trata- inestabilidad en el control de la temperatura ba de nueve casos, cinco varones y cuatro chi- corporal, alteración en el umbral al dolor, cas. Los mayores tenían 23 años, un varón, y trastornos del sueño, alteraciones endocrinas 15, una mujer; el resto tenían de cinco a diez múltiples como déficit de GH, insuficiencia años. Los autores habían descubierto con per- adrenal, hipogonadismo y manifestaciones spicacia similitudes entre ellos en signos clíni- conductuales6. cos: obesidad, retraso del crecimiento, manos y pies pequeños, retraso mental, retraso pu- Hallazgos cromosómicos y genéticos. Led- beral, y antecedente de criptorquidia e hipo- better et al. identificaron en 1981 microde- tonía en el periodo neonatal. Presentaban lecciones en el cromosoma 15 interpretadas exploraciones complementarias y estudios como la localización del SPW (New England, metabólicos. Un paciente había desarrollado 1981). El SPW es un ejemplo clásico del lla- diabetes mellitus. Tras exponer un diagnós- mado sellado genómico. Tiene su origen tico diferencial, elaboraron esta primera de- en una alteración en la región 15q11.2q13, scripción del SPW en escasas 21 líneas, pero cuyos genes están regulados por impronta completa, coherente y citando las implica- genómica. En el SPW la pérdida o inactivación ciones fisiopatológicas. Concluyeron que de- de genes es en el cromosoma de origen pa- bía tratarse de un síndrome diferenciado, del terno1. En esa misma región cromosómica, si que no encontraban datos de ser hereditario la inactivación o pérdida es en genes de ori- o de una alteración embriológica causal. gen materno se producirá el síndrome de An- gelman. La región 15q11q13 es muy suscep- El propio Prader citaba: “Nuestro primer tible a reorganizaciones estructurales como paciente, Albert, había sido visto de recién delecciones, translocaciones, duplicaciones, nacido por Heinrich Willi, después en el inversiones y cromosoma isodicéntrico como Hospital Pediátrico, y de adolescente y es el caso del síndrome idic15 o “Dup15q” o joven adulto por Alex Labhart. En nuestras “tetrasomía parcial del cromosoma 15”. discusiones, Willi recordaba otros pacientes obesos y con retraso mental que, siendo La investigación ha llevado a establecer la neonatos y lactantes, habían necesitado relación entre anomalías genéticas, función atención durante periodos prolongados cerebral y problemas neuroconductuales. debido a una intensa hipotonía“4. El diagnóstico se confirma con los estudios En un principio, el artículo no despertó espe- genéticos. Cuanto antes se realice, mejor, cial interés en la profesión médica. En 1961, para evitar exploraciones innecesarias Prader y Willi comunicaron el síndrome en el y para un abordaje terapéutico precoz 2º Congreso Internacional de Retraso Men- adecuado. Los pacientes con SPW se tal en Viena5. En los siguientes años, fueron benefician del seguimiento multidisciplinario apareciendo publicaciones en Estados Uni- (endocrinología pediátrica, neurología, dos, Reino Unido, Francia, Japón y otros. psicología-psiquiatría, nutricionistas, etc), del tratamiento precoz con hormona de Desarrollo diagnóstico y de crecimiento y detección y seguimiento de tratamiento del síndrome de otras posibles alteraciones endocrinas como Prader-Willi diabetes, hipotiroidismo e insuficiencia adrenal. Por estas razones, el asociacionismo Aportaciones clínicas. Se han desarrollado es fundamental en la búsqueda del mejor consensos diagnósticos clínicos (V.A. Holm et seguimiento y calidad de vida. En 1975 se al. Pediatrics 1993 y revisado por M. Gunay- fundó la Asociación Estadounidense de PW y Aygun et al. Pediatrics 2001). Es característico en 1995 la Española (véase la Tabla 1). … 140 canarias pediátrica · vol. 38, nº3 Humanidades en pediatría … Otras denominaciones del sín- Hans Zellweger, el segundo del departamen- drome to, que marcharía a Beirut para ser jefe del Departamento de Pediatría de la Universidad La denominación más común en la literatura Americana. médica y foros científicos y de pacientes es síndrome de Prader-Willi. Se le ha llamado así En 1950 hizo estancias becado en Nueva York desde 1962-64: J.C. Gabilan (J Pediatr 1962), en el Bellevue Hospital con Luther Emmet P. Royer (Journ Annu Diabetol Hotel Dieu. 1963), Holt Jr. y, en Baltimore, en la Johns Hopkins, H. Forssman, F. Labre y otros. También se ha con Lawson Wilkins, uno de los padres indis- denominado en alguna publicación (1966) cutibles de la endocrinología pediátrica9. como Prader-Labhart-Willi-Fanconi. Los siguientes diez años desarrolló una ingente Otras denominaciones han sido síndrome de tarea asistencial y de fértil investigación clínica: distrofia hipogenital con tendencia a la diabe- En 1951, Prader fue Oberarzt, jefe de residentes tes, síndrome H2O (Hypotonia, hypomentia, y, seis años después, fue Privatdozent, catedrático obesity), o síndrome HHHO (más hipogona- auxiliar (1957). Se doctoró en 1957. El título de su dismo). “Habilitationsschrift“ fue Intersexualität (Heidel- berg, Springer-Verlag). Antecedentes del SPW en publi- caciones médicas Sucedió a Fanconi como jefe del departamen- to del Kinderspital en 1962, hasta 1986. “Mis Se ha señalado que probablemente la prim- principales esfuerzos eran desarrollar la en- era descripción de una mujer con SPW fue docrinología pediátrica e iniciar los estudios realizada en 1887 por el británico J.L. Down del crecimiento normal y alterado”. (1828-1896)7,8. Era un caso de mujer con re- traso mental, estatura corta, hipogonadismo La cátedra y la gestión hospitalaria estuvie- y obesidad, al que ron cargadas de tareas y responsabilidades, denominó polisarcia. pero Prader continuó científicamente acti- Polisarcia es gordura vo9,10, con equipos seleccionados, así como exagerada (mucha car- con numerosos doctores extranjeros invita- ne en griego). Dicho dos. Se incrementó la afluencia de pacientes síndrome cumple los al Kinderspital de Zurich y de especialistas criterios diagnósticos en aprendizaje. Este centro adquirió un gran actuales. Aportó un prestigio, siendo de referencia europea para intento de tratamiento la endocrinología pediátrica. dietético y, finalmente, la necropsia, y una fo- Además de la caracterización del SPW, Prader tografía (figura 2). participó en el descubrimiento de: Incluso se cita un pa- • Síndrome de pseudohermafroditismo ciente varón descrito
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